HECW1

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1, the group of HECT domain containing|MicroRNA protein coding host genes|C2 domain containing

Basic information

Region (hg38): 7:43112629-43566001

Links

ENSG00000002746 ∙ NCBI:23072 ∙ OMIM:610384 ∙ HGNC:22195 ∙ Uniprot:Q76N89 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HECW1 gene.

• not_specified (173 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HECW1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015052.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			171	2		173
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	171	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HECW1	protein_coding	protein_coding	ENST00000395891	28	453403

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000179	124795	0	21	124816	0.0000841

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	733	995	0.737	0.0000641	10499
Missense in Polyphen		236	399.09	0.59134		4128
Synonymous	1.17	392	422	0.928	0.0000310	3140
Loss of Function	7.22	14	86.4	0.162	0.00000522	886

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000178	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000561	0.0000556
Finnish	0.0000929	0.0000928
European (Non-Finnish)	0.0000978	0.0000971
Middle Eastern	0.0000561	0.0000556
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS. {ECO:0000269|PubMed:14684739}.
• Pathway: Signaling by WNT;Signal Transduction;Degradation of DVL;TCF dependent signaling in response to WNT (Consensus)

Recessive Scores

• pRec: 0.174

Intolerance Scores

• rvis_EVS: -0.43
• rvis_percentile_EVS: 24.72

Haploinsufficiency Scores

• pHI: 0.334
• hipred: Y
• hipred_score: 0.792
• ghis: 0.609

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.643

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Hecw1

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;positive regulation of protein catabolic process;regulation of dendrite morphogenesis;negative regulation of canonical Wnt signaling pathway;negative regulation of sodium ion transmembrane transporter activity
• Cellular component: cytoplasm;cytosol
• Molecular function: ubiquitin protein ligase activity